Puneet Varma (Editor)

AARS2

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Species
  
Human

Entrez
  
57505

Human
  
Mouse

Ensembl
  
ENSG00000124608

Aliases
  
AARS2, AARSL, COXPD8, LKENP, MT-ALARS, MTALARS, alanyl-tRNA synthetase 2, mitochondrial

External IDs
  
MGI: 2681839 HomoloGene: 56897 GeneCards: AARS2

Alanyl—tRNA synthetase, mitochondrial, also known as alanine—tRNA ligase (AlaRS) or alanyl—tRNA synthetase 2 (AARS2), is an enzyme that in humans is encoded by the AARS2 gene.

Clinical relevance

Mutations in the AARS2 gene result in infantile mitochondrial cardiomyopathies.

References

AARS2 Wikipedia